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Letter

Nature Genetics 37, 537–543 (1 May 2005) | doi:10.1038/ng1552

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Matias Simons , Joachim Gloy , Athina Ganner , Axel Bullerkotte , Mikhail Bashkurov , Corinna Kr|[ouml]|nig , Bernhard Schermer , Thomas Benzing , Olga A Cabello , Andreas Jenny , Marek Mlodzik , Bozena Polok , Wolfgang Driever , Tomoko Obara & Gerd Walz

Cystic renal diseases are caused by mutations of proteins that share a unique subcellular localization: the primary cilium of tubular epithelial cells. Mutations of the ciliary protein inversin cause nephronophthisis type II, an autosomal recessive cystic kidney disease characterized by extensive renal cysts, situs inversus and renal failure.